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Results: 1 to 20 of 102

1.

Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes.

Ivanov D, Hamby SE, Stenson PD, Phillips AD, Kehrer-Sawatzki H, Cooper DN, Chuzhanova N.

Hum Mutat. 2011 Jun;32(6):620-32. doi: 10.1002/humu.21483. Epub 2011 Mar 22.

PMID:
21432943
[PubMed - indexed for MEDLINE]
2.

Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype.

Ohmiya N, Matsumoto S, Yamamoto H, Baranovskaya S, Malkhosyan SR, Perucho M.

Gene. 2001 Jul 11;272(1-2):301-13.

PMID:
11470537
[PubMed - indexed for MEDLINE]
3.

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.

Ball EV, Stenson PD, Abeysinghe SS, Krawczak M, Cooper DN, Chuzhanova NA.

Hum Mutat. 2005 Sep;26(3):205-13.

PMID:
16086312
[PubMed - indexed for MEDLINE]
4.

Germline variants of the promyelocytic leukemia tumor suppressor gene in patients with familial cancer.

Plevova P, Walczyskova S, Jeziskova I, Jurckova N, Krepelova A, Puchmajerova A, Pavlikova K, Foretova L, Zapletalova J, Silhanova E.

Neoplasma. 2009;56(6):500-7.

PMID:
19728758
[PubMed - indexed for MEDLINE]
5.

Somatic microindels: analysis in mouse soma and comparison with the human germline.

Gonzalez KD, Hill KA, Li K, Li W, Scaringe WA, Wang JC, Gu D, Sommer SS.

Hum Mutat. 2007 Jan;28(1):69-80.

PMID:
16977595
[PubMed - indexed for MEDLINE]
6.

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.

Lamlum H, Ilyas M, Rowan A, Clark S, Johnson V, Bell J, Frayling I, Efstathiou J, Pack K, Payne S, Roylance R, Gorman P, Sheer D, Neale K, Phillips R, Talbot I, Bodmer W, Tomlinson I.

Nat Med. 1999 Sep;5(9):1071-5.

PMID:
10470088
[PubMed - indexed for MEDLINE]
7.

Spontaneous microdeletions and microinsertions in a transgenic mouse mutation detection system: analysis of age, tissue, and sequence specificity.

Halangoda A, Still JG, Hill KA, Sommer SS.

Environ Mol Mutagen. 2001;37(4):311-23.

PMID:
11424181
[PubMed - indexed for MEDLINE]
8.

Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: evidence of diverse somatic mutations in the same patient regardless of tumor type.

Sima R, Vanecek T, Kacerovska D, Trubac P, Cribier B, Rutten A, Vazmitel M, Spagnolo DV, Litvik R, Vantuchova Y, Weyers W, Pearce RL, Pearn J, Michal M, Kazakov DV.

Diagn Mol Pathol. 2010 Jun;19(2):83-91. doi: 10.1097/PDM.0b013e3181ba2d96.

PMID:
20502185
[PubMed - indexed for MEDLINE]
9.

Germline origins in the human F9 gene: frequent G:C-->A:T mosaicism and increased mutations with advanced maternal age.

Ketterling RP, Vielhaber E, Li X, Drost J, Schaid DJ, Kasper CK, Phillips JA 3rd, Koerper MA, Kim H, Sexauer C, Gruppo R, Ambriz R, Paredes R, Sommer SS.

Hum Genet. 1999 Dec;105(6):629-40.

PMID:
10647899
[PubMed - indexed for MEDLINE]
10.

Mutations of the human PTEN gene.

Bonneau D, Longy M.

Hum Mutat. 2000;16(2):109-22. Review.

PMID:
10923032
[PubMed - indexed for MEDLINE]
11.

Somatic spectrum of cancer-associated single basepair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selection.

Krawczak M, Smith-Sorensen B, Schmidtke J, Kakkar VV, Cooper DN, Hovig E.

Hum Mutat. 1995;5(1):48-57.

PMID:
7728149
[PubMed - indexed for MEDLINE]
12.

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

Upadhyaya M, Han S, Consoli C, Majounie E, Horan M, Thomas NS, Potts C, Griffiths S, Ruggieri M, von Deimling A, Cooper DN.

Hum Mutat. 2004 Feb;23(2):134-46.

PMID:
14722917
[PubMed - indexed for MEDLINE]
13.

[Study on the germline mutation of MSH6 gene in Chinese hereditary nonpolyposis colorectal cancer pedigrees using PCR based sequencing].

Yan SY, Zhou XY, Cai SJ, Yu BH, Zhang TM, Li XM, Lu YM, Zhou HH, Mo SJ, Du X, Shi DR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Dec;24(6):640-5. Chinese.

PMID:
18067074
[PubMed - indexed for MEDLINE]
14.

Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer.

da Silva NF, Gentle D, Hesson LB, Morton DG, Latif F, Maher ER.

J Med Genet. 2003 Nov;40(11):820-4.

PMID:
14627671
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The pattern of natural selection in somatic cancer mutations of human mtDNA.

Stafford P, Chen-Quin EB.

J Hum Genet. 2010 Sep;55(9):605-12. doi: 10.1038/jhg.2010.76. Epub 2010 Jul 8.

PMID:
20613764
[PubMed - indexed for MEDLINE]
16.

Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene.

Yamada K, Zhong X, Kanazawa S, Koike J, Tsujita K, Hemmi H.

Oncol Rep. 2003 Jul-Aug;10(4):859-66.

PMID:
12792735
[PubMed - indexed for MEDLINE]
17.

Mutation hotspots in the p53 gene in tumors of different origin: correlation with evolutionary conservation and signs of positive selection.

Glazko GV, Koonin EV, Rogozin IB.

Biochim Biophys Acta. 2004 Aug 12;1679(2):95-106.

PMID:
15297143
[PubMed - indexed for MEDLINE]
Free Article
18.

p53 gain-of-function: tumor biology and bioinformatics come together.

Koonin EV, Rogozin IB, Glazko GV.

Cell Cycle. 2005 May;4(5):686-8. Epub 2005 May 28.

PMID:
15846083
[PubMed - indexed for MEDLINE]
Free Article
19.

High mutability of the tumor suppressor genes RASSF1 and RBSP3 (CTDSPL) in cancer.

Kashuba VI, Pavlova TV, Grigorieva EV, Kutsenko A, Yenamandra SP, Li J, Wang F, Protopopov AI, Zabarovska VI, Senchenko V, Haraldson K, Eshchenko T, Kobliakova J, Vorontsova O, Kuzmin I, Braga E, Blinov VM, Kisselev LL, Zeng YX, Ernberg I, Lerman MI, Klein G, Zabarovsky ER.

PLoS One. 2009 May 29;4(5):e5231. doi: 10.1371/journal.pone.0005231.

PMID:
19478941
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Novel intronic germline FLCN gene mutation in a patient with multiple ipsilateral renal neoplasms.

Gatalica Z, Lilleberg SL, Vranic S, Eyzaguirre E, Orihuela E, Velagaleti G.

Hum Pathol. 2009 Dec;40(12):1813-9. doi: 10.1016/j.humpath.2009.03.026. Epub 2009 Sep 5.

PMID:
19733897
[PubMed - indexed for MEDLINE]

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